MRC-Holland b.v.

MRC-Holland b.v.

Microdeletion in IC

Copy no. Results

50%

Microdeletion deleting exons 1-4 SNRPN

Methylation Results

1

MRC-Holland b.v.

MRC-Holland b.v.

• Copy no. ratio 1.5

• Dup confirmed by cyto• Mat dup 15q11-13 associated with DD, autism, speech problems

Duplications are also detectable

• Methylation ratio 0.66 (mat?)

MRC-Holland b.v.

MRC-Holland b.v.

Advantages of MS-MLPA

• Can detect duplications of Chrom 15q11-13

• May be able to detect microdeletions, without need for parental samples

• Can distinguish cases from IC/ UPD

provide info on RR in majority of cases

need for downstream tests

• PCR-based assay: Small amount DNA required (20ng)

• Technically simple. Fast generation of results

• Shorter report times: 40 days to 3 days Prenatals

MRC-Holland b.v.

MRC-Holland b.v.

Conclusion

MS-MLPA is a • simple • fast• robust• highly informative method for detecting PWS/ AS

MRC-Holland b.v.

MRC-Holland b.v.